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Biomedical subjects

E Cariati

Publications and source records attributed to E Cariati.

At least 19 recordsLinked to original sources
PubMed2004

Turner syndrome: evaluation of prenatal diagnosis in 19 European registries.

This study evaluated the prenatal diagnosis of Turner syndrome by ultrasound examination in an unselected population from all over Europe. Data from 19 congenital malformation registries from 11 European countries were analyzed. Turner syndrome was diagnosed in 125 cases (7.2%) in a total of 1,738 chromosome abnormalities. Sixty-seven percent of cases were detected prenatally by ultrasound examination due to the presence of congenital defects. The most frequent anomalies were cystic hygroma (59.5%) and hydrops fetalis (19%). The most frequent karyotype was 45,X (81.6%) followed by different types of mosaicism (16.8%). Significant differences in congenital defects (P = 0.0003) were observed between 45,X karyotypes and 45,X mosaicism cases. Prenatal counseling for 45,X mosaicism should take into account the expectation of a milder phenotype. In 78.6% of cases diagnosed by ultrasound examination due to congenital anomalies, the pregnancy was terminated. Prenatal detection of Turner syndrome by ultrasound examination was high in this unselected population.

Adolescent↗
PubMed2003

Prenatal detection of rare chromosomal autosomal abnormalities in Europe.

The aim of the present study was to evaluate the prenatal detection of rare chromosomal autosomal abnormalities by ultrasound (US) examination. Data were obtained from 19 congenital malformation registries from 11 European countries, between 01/07/96 and 31/12/98. A total of 664,340 births were covered and 7,758 cases with congenital malformations were recorded. Rare autosomal abnormalities were diagnosed in 114 cases (6.6%) from a total of 1,738 chromosome abnormalities. There were a wide variety of autosomal abnormalities: the most common were deletions (33 cases), duplications (32 cases), trisomies of chromosomes 8, 9, 10, 14, 15, and 16 (23 cases), and unbalanced rearrangements (19 cases). Out of these cases, 45.6% were detected prenatally by US examination due to the presence of congenital anomaly. As for the types of chromosomal anomaly, unbalanced rearrangements and deletions were the most frequently detected by US. A high percentage of cases with balanced rearrangements were associated with severe congenital anomalies. The most frequent congenital anomalies detected by US were cystic hygroma (20.6%), central nervous system defects (17.6%), cardiac defects (13.2%), and diaphragm defects (10.3%). This large series offers useful information about prenatal diagnosis by US of congenital defects associated with rare autosomal abnormalities and it provides a valuable knowledge about outcome. Fetal anomalies detected by US that were associated with rare autosomal abnormalities were significantly more frequent than those associated with common chromosomal abnormalities (45.6 vs. 34.7%). This study indicates the need to increase the detection of congenital anomalies by US.

Chromosome Aberrations↗
PubMed2001

Extended polymorphism in copper(II) imidazolate polymers: a spectroscopic and XRPD structural study.

Copper(II) bisimidazolate affords five different polymorphs; of these, one was structurally characterized 40 years ago by standard single-crystal X-ray diffraction (Jarvis, J. A. J.; Wells, A. F. Acta Crystallogr. 1960, 13, 1027), while the remaining four, selectively prepared as pure polycrystalline phases, have been now studied by X-ray powder diffraction (XRPD) methods. Of the four new (blue, green, olive-green, and pink) phases, three were solved by the ab initio XRPD technique and refined by the Rietveld method, and the fourth phase (pink) could not be structurally characterized. Crystal data for [Cu(imidazolate)(2)](n): blue phase, a = 27.559(3) A, c = 5.3870(9) A, trigonal, R3 macro, Z = 54; green phase, a = 21.139(1) A, b = 19.080(1) A, c = 9.2842(8) A, orthorhombic, Ccca, Z = 20; olive-green phase, a = 11.7556(8) A, b = 23.422(2) A, c = 9.0727(9) A, beta = 104.993(5) degrees, monoclinic, C2/c, Z = 12. All polymorphs contain four-coordinate CuN(4) chromophores and (N,N')-exobidentate imidazolate ligands, but show different spectroscopic and structural properties, the latter ranging from 2D to different 3D networks of the PtS, sodalite, and moganite archetypes. The intermediacy of the [Cu(imidazole)(2)CO(3)]-H(2)O species in the synthesis of the blue polymorph has been confirmed by spectroscopic and thermal analyses. FTIR, Raman, and electronic spectra were correlated with the structural features revealed in the present work, and used to gain insight into the coordination geometry of copper(II) ions of the pink polymorph. In addition, the correct Raman spectrum for copper(II) bisimidazolate, common for all polymorphs, has been definitely determined.

Journal Article↗
PubMed2001

Determination of the quadratic hyperpolarizability of trans-4-[4-(dimethylamino)styryl]pyridine and 5-dimethylamino-1,10-phenanthroline from solvatochromism of absorption and fluorescence spectra: a comparison with the electric-field-induced second-harmonic generation technique.

For fluorescent compounds, the combined use of absorption and emission solvatochromic data allows to estimate indirectly the cavity radius of the molecule in solution, a very critical parameter in the application of the solvatochromic method for the determination of the quadratic hyperpolarizability beta of dipolar molecules. For two test compounds, trans-4-[4-(dimethylamino)styryl]pyridine (DASP) and 5-dimethylamino-1,10-phenanthroline (DAPHEN), the beta values so obtained are compared with those obtained by the EFISH (Electric Field Induced Second-Harmonic generation) technique. For DAPHEN, the versatility of the method described in this work in the presence of more than one electronic transition contributing to the non-linear optical response is demonstrated.

Absorption↗
PubMed1998

Maternal serum screening for trisomy 18 in the first trimester of pregnancy.

The aim of this study was to evaluate the feasibility of first-trimester biochemical screening for trisomy 18, by using pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (hCG) in combination with maternal age. Maternal serum levels of PAPP-A and free beta-hCG were assayed retrospectively in stored sera from 323 singleton pregnancies at 8-13 weeks' gestation. These samples included 23 trisomy 18 pregnancies and 300 unaffected controls, diagnosed either at chorionic villus sampling or at mid-trimester amniocentesis. The median MOM in affected pregnancies was 0.25 for PAPP-A and 0.34 for free beta-hCG. Statistically significant reductions were found in the mean levels of both PAPP-A (t test: P < 0.000001) and free beta-hCG (p < 0.000001) in trisomy 18 affected pregnancies when compared with the unaffected samples. Screening for trisomy 18 using a combination of maternal age, PAPP-A and free beta-hCG would achieve a detection rate of 76.6 per cent for a false-positive rate of 0.5 per cent. These results suggest that first-trimester biochemical screening for trisomy 18 might be possible. Further investigations in a general population are needed before introducing such screening into clinical practice.

Chorionic Gonadotropin, beta Subunit, Human↗
PubMed1998

First trimester screening for Down's syndrome using maternal serum PAPP-A and free beta-hCG in combination with fetal nuchal translucency thickness.

The aim of this study was to evaluate the potential effectiveness of maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta-hCG in combination with nuchal translucency thickness in first trimester screening for Down's syndrome. Maternal serum levels of PAPP-A and free beta-hCG were assayed in stored sera from 32 Down's syndrome and 200 unaffected pregnancies. Fetal nuchal translucency was measured by ultrasound at the time of blood sampling. Screening of Down's syndrome using a combination of maternal age, PAPP-A, free beta-hCG and nuchal translucency would achieve a detection rate of 75.8% for a false positive rate of 5%.

Adult↗
PubMed1997

Comparison between two methods of standardization for gestational age differences in fetal nuchal translucency measurement in first-trimester screening for trisomy 21.

Our purpose was to compare two different methods of expressing nuchal translucency (NT) measurements in first-trimester screening for trisomy 21: the difference in millimeters from the median of nuchal translucency (delta value: delta NT) and the multiple of the expected median (MoM). Fetal nuchal translucency was measured in 32 fetuses with trisomy 21 and in 3180 normal fetuses at 9-13 weeks' gestation. For each fetus, the measured nuchal translucency was expressed both as a delta value and MoM. The effectiveness of the MoM-Gaussian vs. the delta value method in modifying the age-specific risk for trisomy 21 was compared by using both the maternal age distribution of our study population and the age distribution of a general obstetric population. The use of the MoM-Gaussian approach led to a reduction in the false-positive rate at a given detection rate, both in the study population (by 1.2-15.2%) and in the general population (by 0.4-2.4%). Our results suggest that the use of the MoM-Gaussian method might confer a potential advantage on the screening performance of nuchal translucency in combination with maternal age by decreasing the false-positive rate. Further studies in larger unselected populations will be needed to confirm the effectiveness of this approach.

Adult↗
PubMed1996

A new reconstructive method after pancreaticoduodenectomy: the triple Roux on a "P" loop. Rationale and radionuclide scanning evaluation.

We propose a method of reconstruction after pancreaticoduodenectomy consisting of a double Roux en Y on the same jejunal loop without interruption of the mesentery and a third anatomical Roux en Y to reconstitute the alimentary tract. The construction of the double Roux en Y draining pancreas and bile ducts separately, requires a linear Stapler 3-4 centimeters from the biliary anastomosis. In this way, by employing the same loop without mesenteric interruption, two functional excluded loops will be obtained. The rationale of the suggested model is based on the separation of biliary and pancreatic secretions. This makes it possible to avoid a stagnant cul-de-sac coinciding with the pancreaticojejunal anastomosis and to obtain in the case of leakage, a pure biliary and/or pancreatic fistula as far as is possible. 99mTc HIDA scans demonstrated the efficiency, of the biliopancreatic limbs of the reconstruction, showing normal emptying time for the gastric remnant and the absence of radionuclide stagnation or any alkaline enterogastric reflux.

Anastomosis, Roux-en-Y↗
PubMed1996

[Sclerosing adenocarcinomas of the hepatic hilum].

The authors report their series of 7 adenocarcinomas of the hepatic hilum. Five patients with a stage IV tumor underwent palliative surgery while the remaining 2 patients underwent radical surgery. One patient died and 3 reported postoperative complications. Overall survival was 2 years and 6 months: these results can be considered satisfactory taking into account the advanced stage and the bad prognosis of this type of tumor. The aim of a better quality of life may represent a reasonable indication to surgery.

Adenocarcinoma↗
PubMed1996

Management of thoracic duct complex lesions (chylothorax): experience in 16 patients.

From our experience in 16 patients with persistent chylothorax from fistulas of the thoracic duct or its tributaries, we conclude that no standard treatment is uniformly successful and multimodality therapy should be considered. In selected patients, an anastomosis between ectatic lymphatics or hyperplastic lymph nodes and an adjacent vein may be attempted. Chylothorax from "leakage" of the thoracic duct or its tributaries is rare. Rupture of the thoracic duct superior to the sixth thoracic vertebrae generally results in a left-sided chylothorax; below that level, injury usually results in a right-sided chylothorax. The etiology is heterogeneous and includes blunt trauma, penetrating wounds (1), iatrogenic operative injury and lymphatic obstructions due to congenital abnormalities, inflammatory processes or neoplasms. Based on our experience in 16 patients with persistent chylothorax from thoracic duct complex lesions, we review the available treatment options.

Adolescent↗
PubMed1995

Amniotic fluid levels of CA 19.9 and CA 15.3 in normal and Down's syndrome pregnancies.

CA 125, CA 19.9 and CA 15.3 are antigenic determinants on glycoproteins commonly used as serum markers in gynecologic oncology. CA 125 was also investigated in the amniotic compartment of Down's syndrome pregnancies. The objective of this study was to evaluate the concentration of CA 19.9 and CA 15.3 in the amniotic fluid of normal and Down pregnancies. The concentration of these antigens was measured in stored amniotic fluid samples from 15-19 weeks pregnancies with and without Down's syndrome fetuses and expressed in multiples of the median for normal pregnancies of the same gestational age. The study group included 20 samples selected from single Down's syndrome pregnancies. Each of these samples were matched with three control samples from unaffected pregnancies, matched for maternal age, gestational age and duration of storage of the sample. The median MoM values of CA 19.9 and CA 15.3 in Down's syndrome pregnancies were respectively 1.11 MoM and 1.16 MoM, not significantly different from those of unaffected pregnancies (CA 19.9: 1.02 MoM; CA 15.3: 0.99 MoM). In the present study we have not found significantly different levels of CA 19.9 and CA 15.3 in the amniotic fluid of fetuses affected by Down's syndrome and in the controls.

Amniotic Fluid↗
PubMed1994

The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods.

Cytogenetic analysis was performed in 4860 chorionic villus samples by means of both direct preparation and long-term culture. The results of the analysis were compared with a classification including all theoretical types of combinations between the chromosomal constitution of the cytotrophoblast, extraembryonal mesoderm, and fetus, with the aim of evaluating the cytogenetic variability along the trophoblast-embryo axis. Eighteen of 29 possible combinations were found demonstrating a considerable heterogeneity. A mosaic conceptus was found in 1.5 per cent of cases, with generalized mosaicisms and confined mosaicisms in 0.2 and 1.3 per cent, respectively. Cytogenetic variability along the trophoblast-embryo axis was found in 1.42 per cent of cases. Results possibly leading to diagnostic errors (false-positive and false-negative results) were found in only 1.38 per cent. False-positive results of direct preparation were the most commonly observed discrepancy (0.8 per cent), while the incidence of false-positive results of the culture method and of both methods was 0.31 and 0.16 per cent respectively. The incidence of false-negative results was 0.1 per cent, with false-negative results of direct preparation 0.08 per cent and false-negative results of both methods 0.02 per cent. False-negative results of the culture method were not found. Our data confirm the high diagnostic accuracy of chorionic villus sampling and the utility of the combined use of the two methods in minimizing diagnostic errors and in reducing the need for follow-up amniocentesis.

Chorionic Villi Sampling↗
PubMed1994

Humerus and femur length in fetuses with Down syndrome.

The aim of the study was to assess the value of sonographic measurement of fetal humerus and femur lengths in the second trimester as a screening tool for Down syndrome (DS). We reviewed retrospectively fetal sonographic biometry made at the time of amniocentesis between 15 and 19 weeks. The study group consisted of 27 DS fetuses. The control group comprised 500 normal fetuses chosen randomly. The expected humeral and femoral lengths for a given biparietal diameter were estimated by linear regression equations from the 500 normal fetuses. Receiver operating characteristic curve analysis was performed to evaluate both the detection rate and the false-positive rate of different cut-off values of measured to expected lengths ratios. The median femur and humeral lengths in DS fetuses were 0.91 times the expected values. No significant differences in the detection rate and false-positive rate were found between the humerus and femur lengths. When the humeral and femoral lengths were combined, we observed a remarkable reduction in the false-positive rate. A measured to expected length ratio of 0.91 detected 44.4 per cent of DS fetuses with 7.6 per cent false positives. These results suggest that the combination of femoral and humeral lengths may permit a more efficient use of ultrasound in screening for Down syndrome than the use of either alone.

Down Syndrome↗
PubMed1994

[Carcinoma of the rectum. Considerations on diagnosis and therapy].

In this review the authors after an introduction on the risk factors, the symptoms and diagnostic aspects of rectal carcinoma, show the different surgical techniques, used second the literature and personal experience on 37 cases for the upper, middle and lower neoplastic lesions of the rectum.

Adult↗